Chromosome 5

Chromosome 5 is one of the 23 pairs of chromosomes in humans.

People normally have two copies of this chromosome.

Chromosome 5 spans about 182 million base pairs and represents almost 6% of the total DNA in cells.

Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities.

Human chromosome 5 pair after G-banding: One is from mother, one is from father.

Chromosome 5 is responsible for many forms of growth and development cell divisions changes that may cause cancers: acute myeloid leukemia (AML).

Genes on human chromosome 5.

ABLIM3: encoding protein Actin-binding LIM protein 3 ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2 AGXT2: Alanine-glyoxylate aminotransferase 2 ANKRD31: encoding protein Ankyrin repeat domain 31 APBB3: encoding protein Amyloid beta A4 precursor protein-binding family B member 3 APC: adenomatosis polyposis coli ARL15: encoding protein ADP-ribosylation factor-like 15 BRIX1: Ribosome biogenesis protein BRX1 homolog (also BXDC2) C1QTNF3: Complement C1q tumor necrosis factor-related protein 3 C5orf45: Chromosome 5 open reading frame 45 C5orf47: encoding protein Chromosome 5 open reading frame 47 C5orf49: encoding protein Chromosome 5 open reading frame 49 CAST: Calpastatin CDO1: encoding protein Cysteine dioxygenase type 1 CPLANE1: Ciliogenesis And Planar Polarity Effector 1 CPLX2: Complexin-2 CREBRF: encoding protein CREB3 regulatory factor CXXC5: CXXC-type zing finger protein 5 DPYSL3: Dihydropyrimidinase-like protein 3 EGR1: early growth response protein 1 ERAP1: endoplasmic reticulum aminopeptidase 1 (previously called ARTS-1) ERAP2: endoplasmic reticulum aminopeptidase 2 ESM1: Endothelial cell-specific molecule 1 DTDST: diastrophic dysplasia sulfate transporter EIF4E1B: encoding protein Eukaryotic translation initiation factor 4E family member 1B ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8 FAF2: encoding protein Fas associated factor family member 2 FAM172A: encoding protein UPF0528 protein FAM172A FAM105B: encoding protein Family with sequence similarity 105, member B FAM114A2: encoding protein FAM114A2 FAM71B: encoding protein Family with sequence similarity 71 member B FASTKD3: FAST kinase domain-containing protein 3 FBXL7: F-box/LRR-repeat protein 7 FCHSD1: FCH and double SH3 domain protein 1 FGF1: fibroblast growth factor 1 (acidic fibroblast growth factor) FGFR4: fibroblast growth factor receptor 4 GM2A: GM2 ganglioside activator GNPDA1: Glucosamine-6-phosphate isomerase 1 GPBP1: Vasculin HEXB: hexosaminidase B (beta polypeptide) HMGXB3: encoding protein HMG-box containing 3 IK: Protein Red IRX1: Iroquois-class homeodomain protein (human) LARP1: La-related protein 1 LMAN2: Lectin mannose binding 2 LNCR3 encoding protein Lung cancer susceptibility 3 LPCAT1: Lysophosphatidylcholine acyltransferase 1 LYRM7: encoding protein LYR motif containing 7 LYSMD3: LysM and putative peptidoglycan-binding domain-containing protein 3 MAN2A1: Alpha-mannosidase 2 MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse) MCC: Colorectal mutant cancer protein MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta) MCEF: transcription factor AF4/FMR2 family, member 4 MEF2C: Myocyte-specific enhancer factor 2C MEF2C-AS1: encoding protein MEF2C antisense RNA 1 MGAT1: Mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase MINAR2: encoding protein Kiaa1024 like MIR1271: encoding MicroRNA 1271 MIR146A: microRNA 146a MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase MZB1: Marginal zone B and B1 cell-specific protein NIPBL: Nipped-B homolog (Drosophila) NREP: Neuronal regeneration related protein NSA2 encoding protein TGF beta-inducible nuclear protein 1 NSD1: Transcription coregulator protein NSUN2: NOP2/Sun domain family, member 2 NR2F1: Nuclear hormone receptor NSG2: encoding protein Hmp19 protein NUDCD2: NudC domain-containing protein 2 P4HA2: Prolyl 4-hydroxylase subunit alpha-2 PCBD2: Pterin-4-alpha-carbinolamine dehydratase 2 PELO: Pelota homolog PGGT1B: encoding protein Protein geranylgeranyltransferase type I subunit beta PHAX: Phosphorylated adapter for RNA export Pikachurin: Responsible for the functioning of the ribbon synapses; allows the eye to track moving objects PFDN1: Prefoldin subunit 1 POLR3G: encoding protein Polymerase (RNA) III (DNA directed) polypeptide G (32kD) PPIP5K2: Diphosphoinositol pentakisphosphate kinase 2 PRCC1: Proline-rich coiled coil 1 PRR16: encoding protein Proline-rich protein 16 PURA: Purine-rich element-binding protein A PWWP2A: encoding protein PWWP domain containing 2A RANBP3L: encoding protein RAN binding protein 3-like RASGEF1C: encoding protein RasGEF domain family member 1C RMND5B: Required for meiotic nuclear division 5 homolog B SFXN1: Sideroflexin-1 SKIV2L2: Ski2 like RNA helicase 2 SLC22A5: solute carrier family 22 (organic cation transporter), member 5 SLC26A2: solute carrier family 26 (sulfate transporter), member 2 SH3TC2: domain and tetratricopeptide repeats 2 SLCO4C1: Solute carrier organic anion transporter family member 4c1 SLU7: pre-mRNA-splicing factor SLU7 SMN1: survival motor neuron 1, telomeric SMN2: survival motor neuron 2, centromeric SNCAIP: synuclein, alpha interacting protein (synphilin) SPEF2: Sperm flagellar protein 2 SPINK5: serine protease inhibitor Kazal-type 5 (LEKTI) SPINK6: serine protease inhibitor Kazal-type 6 SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2) SPZ1: Spermatogenic leucine zipper protein 1 STC2: Stanniocalcin-2 TBCA: Tubulin-specific chaperone A TCOF1: Treacher Collins-Franceschetti syndrome 1 TGFBI: keratoepithelin THG1L: Probable tRNA(His) guanylyltransferase TICAM2: TIR domain-containing adapter molecule 2 TMEM171: encoding protein Transmembrane protein 171 TNFAIP8: Tumor necrosis factor, alpha-induced protein 8 TSSK1B: encoding protein Testis specific serine kinase 1b TTC37: Tetratricopeptide repeat domain 37 UPF0488: encodes G protein-coupled receptor protein signaling pathway YIPF5: Yip1 domain family member 5 YTHDC2: encoding protein YTH domain containing 2 ZBED3: Zinc finger BED domain-containing protein 3 ZNF608: encoding protein Zinc finger protein 608

Diseases and disorders related to genes located on chromosome 5:

Achondrogenesis type 1B Atelosteogenesis, type II Bosch-Boonstra-Schaaf optic atrophy syndrome Charcot–Marie–Tooth disease, type 4 Cockayne syndrome Cornelia de Lange syndrome Corneal dystrophy of Bowman layer Cri du chat Diastrophic dysplasia Ehlers-Danlos syndrome Familial adenomatous polyposis Granular corneal dystrophy type I Granular corneal dystrophy type II GM2-gangliosidosis, AB variant Homocystinuria 3-Methylcrotonyl-CoA carboxylase deficiency Myelodysplastic syndrome Netherton syndrome Nicotine dependency Parkinson’s disease Primary carnitine deficiency Recessive multiple epiphyseal dysplasia Sandhoff disease Spinal muscular atrophy Sotos Syndrome Survival motor neuron spinal muscular atrophy Treacher Collins syndrome Tricho-hepato-enteric syndrome Usher syndrome

The following conditions are caused by changes in the structure or number of copies of chromosome 5:

Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5.

Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long (q) arm of chromosome 5.

Chromosome 5q deletion syndrome has been linked to several blood related disorders including Myelodysplastic syndrome and Erythroblastopenia.

Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems.

Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5.

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